Canonical Allele Identifier: CA3600700

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179833101G>A , CM000667.2:g.179833101G>A	GRCh38
NC_000005.9:g.179260101G>A , CM000667.1:g.179260101G>A	GRCh37
NC_000005.8:g.179192707G>A	NCBI36
NG_011342.1:g.31714G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.824G>A MANE Select	NP_003891.1:p.Ser275Asn
ENST00000389805.9:c.824G>A MANE Select	ENSP00000374455.4:p.Ser275Asn
NM_001142298.1:c.572G>A	NP_001135770.1:p.Ser191Asn
NM_001142298.2:c.572G>A	NP_001135770.1:p.Ser191Asn
NM_001142299.1:c.572G>A	NP_001135771.1:p.Ser191Asn
NM_001142299.2:c.572G>A	NP_001135771.1:p.Ser191Asn
NM_003900.4:c.824G>A	NP_003891.1:p.Ser275Asn
ENST00000360718.5:c.572G>A	ENSP00000353944.5:p.Ser191Asn
ENST00000389805.8:c.824G>A	ENSP00000374455.4:p.Ser275Asn
ENST00000466342.1:n.523G>A
ENST00000510187.5:c.824G>A	ENSP00000424477.1:p.Ser275Asn
XM_017010010.1:c.572G>A	XP_016865499.1:p.Ser191Asn